Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1
Summary
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang H, Ma Y, Song F, Yang X, Li Y, Guan J, Lv Y, Gao M, Ma J, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Aug;39:101505 |
| PubMed | 31415973 |
| DOI | 10.1016/j.scr.2019.101505 |